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primary immunodeficiency disease
Summary
- Synonym
-
- hypoimmunity
- immune deficiency disorder
- immunodeficiency syndrome
- Definition
- An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
- Super Class
- immune system disease
External Links
- Disease Ontology
- DOID:612
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 57016 | AKR1B10 | aldo-keto reductase family 1 member B10 | |
| 57511 | COG6 | component of oligomeric golgi complex 6 | |
| 79679 | VTCN1 | V-set domain containing T cell activation inhibitor 1 | |
| 79966 | SCD5 | stearoyl-CoA desaturase 5 | |
| 92579 | G6PC3 | glucose-6-phosphatase catalytic subunit 3 | |
| 283420 | CLEC9A | C-type lectin domain containing 9A | |
| 100507436 | MICA | MHC class I polypeptide-related sequence A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07741 | Adenine phosphoribosyltransferase | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P09382 | Galectin-1 | |
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P10253 | Lysosomal alpha-glucosidase | |
| P11226 | Mannose-binding protein C | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P15289 | Arylsulfatase A | |
| P15907 | Beta-galactoside alpha-2,6-sialyltransferase 1 |
